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Article

Diagnosis of prenatal 22q11.2 duplication syndrome: a two-case study.

Journal of genetics - 1 Jan 2023

Li Hening, Gong Yanfei, Chen Jingyi, Xie Liyun, Li Bojie, Xiang Yanghai, Xie Meihua

Abstract excerpt

The objective of the study was to perform the prenatal diagnosis of two foetuses with 22q11.2 duplication for 2.5 Mb after noninvasive prenatal testing (NIPT), and to explore the prenatal diagnosis and genetic characteristics of these foetuses. After amniocentesis, each foetus was diagnosed through karyotype analysis and single-nucleotide polymorphism array (SNP-array), and copy number variation using shotgun...

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Abnormalities, Multiple
Chromosome Duplication
Chromosomes, Human, Pair 22
DiGeorge Syndrome
DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

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PMID: 36722223

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